What percentage of plasma is water?
90%
What is included in plasma? (3 things)
clotting factors, fibrinogen and antibodies
lymphocytes are divided into what 2 categories?
B cell (antibody) and T cell (hypersensitivity)
What is the inheritance of sickle cell?
autosomal recessive. so 2 carriers have a 1 in 4 chance of an affected or unaffected child. and a 1 in 2 chance that they will have a carrier.
What is the inheritance of HS?
autosomal dominant, but only one abnormal gene is needed for the disorder to express itself so the chance is 50/50
Inheritance pattern of Fanconi Anemia?
autosomal recessive. 1/4 chance it will affect the child if both parents are carriers
Patient with anemia and some physical anomalies including short stature, skin pigmentation, upper limb deformities, microcephaly (and could have GI/renal and cardiac issues). Which type of anemia?
Fanconis
What is the percent chance people with Fanconi’s end up progressing to MDS or AML?
50%
Which cell lines are affected with fanconis?
All 3
What does a chromosomal breakage study diagnose?
Fanconis anemia
What is the cure for Fanconi’s anemia?
transplant - 66% survival with matched donors, 29% with unrelated matched
What is an early sign of Schwachman Diamond syndrome?
Pancreatic insufficiency - fatty foul smelling stools due to fatty infiltration.
Short stature, bone deformities, pancreatic insufficiency, FTT and bone marrow failure would likely be which type of anemia?
Schwachman Diamond
Schwachman Diamond is what type of inheritance?
autosomal recessive
Which diseases include an increased risk for MDS/AML and require regular bone marrow biopsies?
(Schwachman Diamond, Fanconi’s, for the BMs) dyskeratosis congenita, diamond blackfan anemia, congenital neutropenias
Hyperpigmentation (trunk, neck, face), nail dystrophy (ridges in the nails and distorted, weak fingernails) and leukoplakia (which patches in cheeks) can be part of which syndrome? What happens as a result of this syndrome?
Dyskeratosis congenita, the severe inherited form. Progressive bone marrow failure is part of this in the second decade of life usually. often it is thrombocytopenia first.
What is an example of pure red cell aplasia?
diamond blackfan. cell defect kills RBC precursers.
Diamond blackfan anemia is inherited how?
autosomal dominant.
50% of people with diamond blackfan have these features:
deformities of hands, short stature, snub nose, thick upper lip, light hair, wide set eyes. some
Macrocytic anemia with low or absent retic (sometimes high plt and mild neutropenia) is which disease?
Diamond Blackfan anemia
What is the treatment for diamond blackfan anemia?
Steroids, then tapered down until possibly discontinued. supportive transfusions. only cure is transplant. many have remissions while weaning steroids-fails often.
What to watch for with diamond blackfan patients?
iron overload, steroid side effects (including decreased response to puberty, impaired immunity, bone density loss, etc).
Pallor, fatigue, heart murmur preceeded by viral illness. Low hgb and retic. What is this?
TEC, resolves in 4-6 weeks, etiology unknown
What is Kostmann syndrome?
severe congenital neutropenia, more common with Middle Eastern descent
Possible causes of autoimmune neutropenia?
post infections like Parvo, lupus, ALPS,
Treatment for autoimmune neutropenia?
usually not required, can use GCSF or IVIG as needed
What is the difference between warm agglutinins and cold agglutinins? Which is more life threatening?
Warm - antibodies destroy RBCs at normal body temp. Rapid and life threatening
Cold - antibodies activate below normal body temp - mild, self limiting, need warm blood if transfused.
Acute symptoms: Low coombs, low hgb, high retic and bili, jaundice, splenomegaly. abnormally shaped RBCs. Possible diagnosis?
Autoimmune hemolytic anemia.
Why do patients with automimmune hemolytic anemia have dark urine?
high bili and jaundice due to lysing RBCs.
Treatment for autoimmune hemolytic anemia.
high dose steroids and IVIG. may need transfusions and splenectomy. Plasmapharesis may work but probably temporary.
What is PNH?
an acquired hemolytic anemia. life threatening. It is a result of a mutation in the PIGA gene.
What is a treatment option for PNH?
transplant. or immunosuppression like aplastic anemia. could also use Solris, a monoclonal antibody
How is G6PD diagnosed?
usually on newborn screen. prolonged jaundice
What does a pyruvate kinase deficiency cause?
hemolytic anemia.
Pt with anemia and thrombocytopenia after infectious diarrhea which led to acute renal failure could have
HUS. most common cause of ARF in children.
What 3 factors cause vaso-occlusive crisis in SCD?
ischedmia due to vessel occlusion, endothelial damage, local inflammation
What leads to 25% of all SCD deaths?
ACS
SCD - pain crisis, pneumonia, prior episode of ACS and underlying pulmonary disease are all risk factors for?
ACS. lungs occluded with sickled RBCs leads to rapid deterioration of respiratory function.
Why consider neuropsych testing for SCD?
dleayed learning, possible silent infarcts
How is thalassemia inherited?
autosomal recessive. one or more gene mutations.
For alpha thal - what are the 4 types? (one is asymptomatic, one has mild/microcytic anemia, one has mild to severe anemia and one is lethal)
a thal silent carrier - asymptomatic
a thal trait - mild anemia
HbH - mild to severe anemia
Hydrops fetalis - lethal
Alpha thal vs beta thal - which is usually a deletion and which is usually a mutation?
alpha thal - degrees of deletion
beta thal - degrees of mutation
Normal amount of a chains but not enough B chains results in an excess of a chains and leads to hemolysis. Which disease?
beta thal
Which beta thal is asymptomatic with mild anemia? which is moderate anemia? which is severe and transfusion dep?
minor (trait), intermedia, and major.
What 2 factors are major contributers to cardiac disease and endocrinopathies in thalassemia?
iron overload and poor chelation.
Pt has a normal PT and prolonged PTT, which bleeding disorder?
hemophilia
Lymphoproliferative disorders, wilms tumors, lupus, heartdisease and valproic acid can lead to which disorder?
acquired VwB
Patient with elevated D Dimer, low platelets and ATIII, and prolonged PT/PTT?
DIC
Treatment of DIC?
FFP/cryo, transfuse RBC/plt if needed, ventilator/dialysis if needed, and treat underlying cause
